Allele Registry

Canonical Allele Identifier: PA242291

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000642039

RCV000724617

RCV003298222

RCV003474931

RCV003995684

ClinVar Variation:

195727

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Arg1093Gln	CA007291 NM_000368.5:c.3278G>A